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Published in 2020 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3992
Abstract: X‐linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not…
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Keywords:
pth;
hypercalcemic hyperparathyroidism;
pth concentrations;
hyperparathyroidism ... See more keywords
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Published in 2021 at "Journal of clinical pharmacology"
DOI: 10.1002/jcph.1950
Abstract: Burosumab is a fully human monoclonal antibody against fibroblast growth factor 23 (FGF23), which has been approved to treat X-linked hypophosphatemia (XLH) in adult and pediatric patients. The present work describes the pharmacokinetics (PK) of…
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Keywords:
serum;
adult pediatric;
pediatric patients;
linked hypophosphatemia ... See more keywords
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Published in 2017 at "Bone"
DOI: 10.1016/j.bone.2016.11.019
Abstract: Seven young patients with X-linked hypophosphatemia (XLH, having inactivating PHEX mutations) were discovered to accumulate osteopontin (OPN) at the sites of defective bone mineralization near osteocytes - the so-called hallmark periosteocytic (lacunar) "halos" of XLH.…
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Keywords:
xlh;
bone;
dento osseous;
linked hypophosphatemia ... See more keywords
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Published in 2021 at "International endodontic journal"
DOI: 10.1111/iej.13520
Abstract: AIM To describe two patients with X-linked hypophosphatemia presenting with spontaneous signs of pulpal necrosis in multiple intact teeth. The presentation and management are discussed, along with the diagnostic and endodontic treatment challenges. SUMMARY Two…
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Keywords:
presentation;
patients linked;
endodontic treatment;
treatment ... See more keywords
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Published in 2018 at "Journal of Dental Research"
DOI: 10.1177/0022034517728497
Abstract: X-linked hypophosphatemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene. Mutated or absent PHEX protein/enzyme leads to a decreased serum phosphate level, which cause mineralization defects in the skeleton and…
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Keywords:
xlh;
dental pulp;
linked hypophosphatemia;
mineralization ... See more keywords
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Published in 2018 at "Therapeutic Advances in Chronic Disease"
DOI: 10.1177/2040622318804753
Abstract: Background: X-linked hypophosphatemia (XLH) is the most common form of familial phosphate-wasting disorders, due to an inactivating mutation in the phosphate-regulating neutral endopeptidase, X-linked gene. Persistent osteomalacia, enthesophytes, osteophytes, degenerative arthritis and dental abscesses/periodontal disease…
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Keywords:
hydroxyapatite;
bone;
linked hypophosphatemia;
mice ... See more keywords
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Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac021
Abstract: Abstract Objective Burosumab, an anti-fibroblast growth factor 23 antibody, was recently approved for the treatment of X-linked hypophosphatemia (XLH). We evaluated the safety and efficacy of burosumab in pediatric XLH patients. Methods This open-label, phase…
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Keywords:
burosumab pediatric;
safety;
efficacy burosumab;
safety efficacy ... See more keywords
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Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac086
Abstract: Abstract The rare genetic disorder X-linked hypophosphatemia (XLH) is often exclusively considered to impact children, and, as such, adult patients with XLH may receive inadequate care because their symptoms are not associated with XLH. However,…
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Keywords:
family;
xlh;
whole body;
body whole ... See more keywords
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Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac094
Abstract: Abstract Context X-linked hypophosphatemia (XLH) is a rare and progressive metabolic phosphate-wasting disorder characterized by lifelong musculoskeletal comorbidities. Despite considerable physical disability, there are currently no disease-specific physical therapy (PT) recommendations for XLH designed to…
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Keywords:
xlh;
evidence based;
physical therapy;
study ... See more keywords
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Published in 2020 at "Internal Medicine"
DOI: 10.2169/internalmedicine.4029-19
Abstract: A 38-year-old woman, who had been genetically diagnosed with X-linked hypophosphatemia (XLH) in childhood, was referred to our hospital due to persistent back pain and bilateral heel pain. She had visited an orthopedic surgeon and…
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Keywords:
xlh mimicking;
rheumatic disease;
linked hypophosphatemia;
mimicking rheumatic ... See more keywords
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Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.1034580
Abstract: Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab…
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Keywords:
burosumab linked;
burosumab;
burosumab treatment;
children adolescents ... See more keywords